|  Help  |  About  |  Contact Us

Allele : Fkrp<tm1.1Pg> fukutin related protein; targeted mutation 1.1, PolyGene AG

Primary Identifier  MGI:6404009 Allele Type  Targeted
Attribute String  Conditional ready, Humanized sequence Gene  Fkrp
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  A leucine to isoleucine mutation at amino acid 276 was inserted into exon 3. In addition, a loxP site was inserted upstream of the exon, and a FRT-flanked neomycin selection cassette and second loxP site were inserted downstream of exon 3. Flp-mediated recombination removed the neomycin selection cassette. This is a common mutation found in Limb-girdle muscular dystrophy type 2I patients.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • FKRP<L276I>,
  • FKRP<L276I>
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories